Linked Data
ClinVar Variation Id:
433296
ClinVar RCV Id:
RCV000499022
dbSNP Id:
rs72657690
gnomAD v4:
16-16169786-A-C
PubMed:
PMID:15723264
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16169786A>C , CM000678.2:g.16169786A>C | GRCh38 |
| NC_000016.9:g.16263643A>C , CM000678.1:g.16263643A>C | GRCh37 |
| NC_000016.8:g.16171144A>C | NCBI36 |
| NG_007558.2:g.58686T>G | |
| NG_007558.3:g.58832T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622290.5:c.2855T>G | ENSP00000483331.2:p.Phe952Cys | |
| ENST00000205557.12:c.2855T>G MANE Select | ENSP00000205557.7:p.Phe952Cys | |
| ENST00000205557.11:c.2855T>G | ENSP00000205557.7:p.Phe952Cys | |
| ENST00000456970.6:c.2680T>G | ENSP00000405002.2:n.2680T>G | |
| ENST00000622290.4:c.*64T>G | ENSP00000483331.1:n.*64T>G | |
| NM_001171.5:c.2855T>G | NP_001162.4:p.Phe952Cys | |
| XM_011522479.1:c.2822T>G | XP_011520781.1:p.Phe941Cys | |
| XM_011522480.1:c.2513T>G | XP_011520782.1:p.Phe838Cys | |
| XM_011522481.1:c.2513T>G | XP_011520783.1:p.Phe838Cys | |
| XR_932836.1:n.3090T>G | ||
| XR_932837.1:n.3091T>G | ||
| XR_932838.1:n.3091T>G | ||
| NM_001351800.1:c.2513T>G | NP_001338729.1:p.Phe838Cys | |
| NR_147784.1:n.2717T>G | ||
| XM_011522479.2:c.2822T>G | XP_011520781.1:p.Phe941Cys | |
| XM_011522481.3:c.2513T>G | XP_011520783.1:p.Phe838Cys | |
| XM_017023212.1:c.2687T>G | XP_016878701.1:p.Phe896Cys | |
| XM_017023214.1:c.2855T>G | XP_016878703.1:p.Phe952Cys | |
| XM_024450261.1:c.2891T>G | XP_024306029.1:p.Phe964Cys | |
| XR_932836.2:n.3036T>G | ||
| XR_932837.3:n.3036T>G | ||
| XR_932838.3:n.3036T>G | ||
| NM_001171.6:c.2855T>G MANE Select | NP_001162.5:p.Phe952Cys |